Canonical Allele Identifier: CA2166364917

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27925787_27925788delinsTC , CM000677.2:g.27925787_27925788delinsTC	GRCh38
NC_000015.9:g.28170933_28170934delinsTC , CM000677.1:g.28170933_28170934delinsTC	GRCh37
NC_000015.8:g.25844528_25844529delinsTC	NCBI36
NG_009846.1:g.178525_178526delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2079+339_2079+340delinsGA MANE Select	ENSP00000346659.3:n.2079+339_2079+340delinsGA
ENST00000353809.9:c.2007+339_2007+340delinsGA	ENSP00000261276.8:n.2007+339_2007+340delinsGA
ENST00000354638.7:c.2079+339_2079+340delinsGA	ENSP00000346659.3:n.2079+339_2079+340delinsGA
NM_000275.2:c.2079+339_2079+340delinsGA	NP_000266.2:n.2079+339_2079+340delinsGA
NM_001300984.1:c.2007+339_2007+340delinsGA	NP_001287913.1:n.2007+339_2007+340delinsGA
XM_011521639.1:c.2103+339_2103+340delinsGA	XP_011519941.1:n.2103+339_2103+340delinsGA
XM_011521640.1:c.2079+339_2079+340delinsGA	XP_011519942.1:n.2079+339_2079+340delinsGA
XM_011521641.1:c.2103+339_2103+340delinsGA	XP_011519943.1:n.2103+339_2103+340delinsGA
XM_011521642.1:c.2031+339_2031+340delinsGA	XP_011519944.1:n.2031+339_2031+340delinsGA
XM_011521643.1:c.2031+339_2031+340delinsGA	XP_011519945.1:n.2031+339_2031+340delinsGA
XM_011521644.1:c.1965+339_1965+340delinsGA	XP_011519946.1:n.1965+339_1965+340delinsGA
XM_011521645.1:c.2103+339_2103+340delinsGA	XP_011519947.1:n.2103+339_2103+340delinsGA
XM_011521640.2:c.2079+339_2079+340delinsGA	XP_011519942.1:n.2079+339_2079+340delinsGA
XM_017022255.1:c.2103+339_2103+340delinsGA	XP_016877744.1:n.2103+339_2103+340delinsGA
XM_017022256.1:c.2103+339_2103+340delinsGA	XP_016877745.1:n.2103+339_2103+340delinsGA
XM_017022257.1:c.2031+339_2031+340delinsGA	XP_016877746.1:n.2031+339_2031+340delinsGA
XM_017022258.1:c.2103+339_2103+340delinsGA	XP_016877747.1:n.2103+339_2103+340delinsGA
XM_017022259.1:c.2031+339_2031+340delinsGA	XP_016877748.1:n.2031+339_2031+340delinsGA
XM_017022260.1:c.1965+339_1965+340delinsGA	XP_016877749.1:n.1965+339_1965+340delinsGA
XM_017022261.1:c.1908+339_1908+340delinsGA	XP_016877750.1:n.1908+339_1908+340delinsGA
XM_017022262.1:c.2103+339_2103+340delinsGA	XP_016877751.1:n.2103+339_2103+340delinsGA
XM_017022263.1:c.2103+339_2103+340delinsGA	XP_016877752.1:n.2103+339_2103+340delinsGA
XM_017022264.1:c.2103+339_2103+340delinsGA	XP_016877753.1:n.2103+339_2103+340delinsGA
NM_000275.3:c.2079+339_2079+340delinsGA MANE Select	NP_000266.2:n.2079+339_2079+340delinsGA
NM_001300984.2:c.2007+339_2007+340delinsGA	NP_001287913.1:n.2007+339_2007+340delinsGA